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Myotonic dystrophy facies
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Dan Evans
Lindenwood University
Genetics
November 25, 2012
Introduction
Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the normal levels (Musova et al., 2009). The trinucleotide region is a series of repeats of CTG in the untranslated region of the dystrophia myotonica protein kinase gene. The severity of the disorder is associated with the number of repeats the individual has within the gene. Normal individuals tend to have between 5 and 37 repeats while an individual with a very mild myotonic dystrophy may have 50 to 150 repeats, and if the disorder is discovered at the time of birth the individual will have over 2,000 repeats of the trinucleotide region (Musova et al., 2009). Myotonic dystrophy, type 1, affects multiple organ systems of the body and is relatively slow to progress. Myotonic dystrophy, type 1, is categorized by alterations of the beating pattern of the heart, faulty dystrophin proteins, clouding of the lens of the eye, decreased functionality of the gonads, balding, and myotonia (Musova et al., 2009). Myotonia is described as the slow relaxation of any muscle type, which will cause the individual to use extended effort to simply relax the muscles after they have been contracted. Muscular dystrophy causes an individual to experience muscular deg...
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Basically, serotonin levels will provide various benefits regarded to health and mental. It is also called feel good chemical which will apply benefits to both biological and psychological functions. Most of this supplement’s application is found primarily in digestive tract and blood plates. Only small amount of this supplement will be served for its purpose in central nervous systems and brains. If users says that they are in way to achieve serotonin levels, then it is clearly understood that the small percentage will exists in the brain. It is capable of delivering various benefits regarding to mental function and maintenance of serotonin levels of the brain. The neurotransmitter has various things to do
The skeletal and ultimate cardiac muscle fibers are affected by DMD. The disease starts by affecting the lower port...
It's also important that people with heart problems caused by muscular dystrophy be monitored by a heart specialist.
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It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
Hypertrophic cardiomyopathy is an inherited disease that affects the cardiac muscle of the heart, causing the walls of the heart to thicken and become stiff. [1] On a cellular level, the sarcomere increase in size. As a result, the cardiac muscles become abnormally thick, making it difficult for the cells to contract and the heart to pump. A genetic mutation causes the myocytes to form chaotic intersecting bundles. A pathognomonic abnormality called myocardial fiber disarray. [2,12] How the hypertrophy is distributed throughout the heart is varied. Though, in most cases, the left ventricle is always affected. [3] The heart muscle can thicken in four different patterns. The most common being asymmetrical septal hypertrophy without obstruction. Here the intraventricular septum becomes thick, but the mitral valve is not affected. Asymmetrical septal hypertrophy with obstruction causes the mitral valve to touch the septal wall during contraction. (Left ventricle outflow tract obstruction.) The obstruction of the mitral valve allows for blood to slowly flow from the left ventricle back into the left atrium (Mitral regurgitation). Symmetrical hypertrophy is the thickening of the entire left ven...
 Mild, chronic depression has probably existed as long as the human condition, although it has been referred to by various different names. The DSM-III replaced the term “neurotic depression” with dysthymic disorder--which literally means ‘ill-humored’-and it was added to the Diagnostic and Statistical Manual of Mental Disorders, 1980
According to Li, O’Brien, Snyder, and Howard (2016), problematic internet use may lead to serious psychosocial dysfunction and has resulted in a proposed diagnostic criterion for the DSM-5 in order to assess the disorder. In the United States, 6% to 11% of internet users are problematic internet users. Researchers, in fact, compare problematic internet use to the assessed criteria for gambling and internet gaming disorder. They have also concluded that college-aged teens and young adults are at most risk due to the availability of internet access around them and the direct relationship between the internet and education. Symptoms include impaired physical health such as obesity or sleep disorders, psychological distress, and behavioral problems. Students may also experience more interpersonal problems and worse school and work performance.
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
Horn, J. L., & Cattell, R. B. (1967). ‘Age differences in fluid and crystallized intelligence’. Acta Psychological, 26, 107-129.
This week I thought I would write a little bit about the origin of TwitchyNinja as my online persona. This story goes way back, so buckle up for a long ride. I’ll try to keep it short and this may end up being a two part story just for the sake of not boring you guys to death. Now, without further ado let us jump right in.
Depression is general apathy towards daily activities and towards oneself. This disorder can cause a feeling of sadness and hopelessness. Activities that once brought happiness loses meaning. A person may overeat or oversleep or under eat and under sleep. This disorder is disruptive enough to be debilitating. Dysthymia is erratic while major depressive disorder is chronic. Depressive disorder is more commonly found in woman than in men, and elders and teenagers are more susceptible.
Jarry J., et al. "A Novel Autosomal Recessive Limb-Girdle Muscular Dystrophy with Quadriceps Atrophy Maps to 11p13-p12." Brain 130 (2007): 368-380.